The Calgary Guide to Understanding Disease @TheCalgaryGuide
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Account created for The Calgary Guide to Understanding Disease - Linking pathophysiology to clinical presentation - http://calgaryguide.ucalgary.ca/
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21hydroxylasedeficiency endocrinology keratoconus praderwilli prematurity retinopathy
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms/Complications ... #genetics #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD ... #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Signs / Symptoms / Complications ... #Keratoconus #pathophysiology ... #ophthalmology
Retinopathy of Prematurity: Pathogenesis and clinical findings Increased metabolic demand of growing eye -> Excessive VEGF production ->
-> Neovascular complications ... #Prematurity #peds ... #pediatrics #pathophysiology ... #ophthalmology
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